HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786210_30786211dup , CM000670.2:g.30786210_30786211dup | GRCh38 |
NC_000008.10:g.30643726_30643727dup , CM000670.1:g.30643726_30643727dup | GRCh37 |
NC_000008.9:g.30763268_30763269dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*25_*26dup MANE Select | ENSP00000221138.4:n.*25_*26dup | |
ENST00000221138.8:c.*25_*26dup | ENSP00000221138.4:n.*25_*26dup | |
ENST00000518532.1:n.465_466dup | ||
ENST00000518564.1:c.142-221_142-220dup | ENSP00000428142.1:n.142-221_142-220dup | |
ENST00000522113.1:n.155_156dup | ||
ENST00000523023.1:c.181+1_181+2dup | ||
NM_001009552.1:c.*25_*26dup | NP_001009552.1:n.*25_*26dup | |
NM_001009552.2:c.*25_*26dup MANE Select | NP_001009552.1:n.*25_*26dup |